Results 51 to 60 of about 27,998 (224)

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

Педиатрическая фармакология, 2015
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan   +8 more
doaj   +1 more source

A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients [PDF]

, 2015
Osteogenesis imperfecta (OI) is a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. Their typical oral and craneofacial characteristics (Dentinogenesis imperfecta type I and class III malocclusion),
de Nova García, Joaquín, Feijóo, Gonzalo, Garcilazo, Mario, Gutiérrez Díez, María Pilar, Mourelle Martínez, Mª Rosa, Ortega Aranegui, Ricardo, Ríos Rodenas, Mercedes   +6 more
core   +2 more sources

Dental Implants in Adults With Intellectual Disabilities: A Multicenter Retrospective Study. Part 1: Implant Outcomes

Journal of Oral Rehabilitation, EarlyView.
This multicenter retrospective study evaluated implant survival and peri‐implant health in adults with non‐syndromic intellectual disability. Among 453 implants with long‐term follow‐up, survival exceeded 92%, with tissue‐level implants and cement‐retained restorations associated with healthier peri‐implant conditions. These findings support the use of
Márcio Diniz‐Freitas, Manuel Bratos‐Bobo, Manuel Bratos‐Morillo, Denise Faulks, Marie‐Sophie Bogner, Melanie Derchu, Caroline Eschevins, Emmanuel Nicolas, Pierre Yves Cousson, Chantal Auduc, Yoo Soo‐Yeon, Pedro Diz‐Dios, Pablo Gasamáns‐García, Jacobo Limeres‐Posse, Paolo Appendino, Simone Buttiglieri, Francesco Della Ferrera, Roberto Rozza, Fabio Brusamolino, Javier Fernández‐Feijoo   +19 more
wiley   +1 more source

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults

Orphanet Journal of Rare Diseases
Background The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society.
Tracy Hart, Ingunn Westerheim, Taco van Welzenis, Oliver Semler, Cathleen Raggio, Frank Rauch, Ruby Dadzie, Samantha Prince, Lena Lande Wekre   +8 more
doaj   +1 more source

Avulsion fracture of the olecranon for the diagnosis of osteogenesis imperfecta case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Avulsion fractures of olecranon in children are very rare and often associated with osteogenesis imperfecta. In this study we report a child who has been followed for constitutional growth retardation for five years.
Abdurrahman Ozcelik, Akin Turgut, Gokhan Maralcan, Sinan Seber   +3 more
doaj  

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

BMC Medical Genetics, 2011
Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas   +3 more
doaj   +1 more source

3D Micron-scale Imaging of the Cortical Bone Canal Network in Human Osteogenesis Imperfecta (OI) [PDF]

, 2013
Osteogenesis imperfecta (OI) is a genetic disorder leading to increased bone fragility. Recent work has shown that the hierarchical structure of bone plays an important role in determining its mechanical properties and resistance to fracture. The current
Albert, Carolyne, Busse, Bjoern, Harris, Gerald F., Jameson, John R., Smith, Peter A.   +4 more
core   +1 more source

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source

Quantification of SARM1 NADase Activity in Human Peripheral Blood Mononuclear Cells

The FASEB Journal, Volume 40, Issue 9, 15 May 2026.
Proposed model for NAD+ metabolism in (A) control and (B) SARM1 activated PBMCs. In native form, 3‐AP and Vacor compete with NAM as an alternative substrate for NAMPT. This consequently decreases generation of NMN and biosynthesis of NAD+ is limited by both a reduction in precursor NMN and direct inhibition of NMNAT by Vacor‐MN and 3‐AP‐MN.
Lila F. Dabill, Ivana R. Shen, Jennifer M. Brazill, Alicia Neiner, Yo Sasaki, Erica L. Scheller   +5 more
wiley   +1 more source